Canonical Allele Identifier: CA034835

Gene: LDLR

Linked Data

• ClinVar Variation Id: 993226
• ClinVar RCV Id: RCV001284640
• dbSNP Id: rs28942080
• ExAC: 19:11224419 G / C
• gnomAD v2: 19-11224419-G-C
• gnomAD v3: 19-11113743-G-C
• gnomAD v4: 19-11113743-G-C
• MyVariant Identifiers: chr19:g.11224419G>C (hg19) ; chr19:g.11113743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113743G>C , CM000681.2:g.11113743G>C	GRCh38
NC_000019.9:g.11224419G>C , CM000681.1:g.11224419G>C	GRCh37
NC_000019.8:g.11085419G>C	NCBI36
NG_009060.1:g.29363G>C , LRG_274:g.29363G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1825G>C	ENSP00000252444.6:p.Val609Leu
ENST00000559340.2:c.1567G>C	ENSP00000453696.2:p.Val523Leu
ENST00000560467.2:c.1447G>C	ENSP00000453513.2:p.Val483Leu
ENST00000558518.6:c.1567G>C MANE Select	ENSP00000454071.1:p.Val523Leu
ENST00000252444.9:c.1821G>C
ENST00000455727.6:c.1063G>C	ENSP00000397829.2:p.Val355Leu
ENST00000535915.5:c.1444G>C	ENSP00000440520.1:p.Val482Leu
ENST00000545707.5:c.1186G>C	ENSP00000437639.1:p.Val396Leu
ENST00000557933.5:c.1567G>C	ENSP00000453557.1:p.Val523Leu
ENST00000558013.5:c.1567G>C	ENSP00000453346.1:p.Val523Leu
ENST00000558518.5:c.1567G>C	ENSP00000454071.1:p.Val523Leu
ENST00000559340.1:c.288G>C
NM_000527.4:c.1567G>C , LRG_274t1:c.1567G>C	NP_000518.1:p.Val523Leu
NM_001195798.1:c.1567G>C	NP_001182727.1:p.Val523Leu
NM_001195799.1:c.1444G>C	NP_001182728.1:p.Val482Leu
NM_001195800.1:c.1063G>C	NP_001182729.1:p.Val355Leu
NM_001195803.1:c.1186G>C	NP_001182732.1:p.Val396Leu
XM_011528010.1:c.1567G>C	XP_011526312.1:p.Val523Leu
XM_011528011.1:c.1186G>C	XP_011526313.1:p.Val396Leu
XR_244074.2:n.1717G>C
XM_011528010.2:c.1567G>C	XP_011526312.1:p.Val523Leu
XR_001753685.2:n.1684G>C
XR_001753686.2:n.1684G>C
NM_000527.5:c.1567G>C MANE Select	NP_000518.1:p.Val523Leu
NM_001195798.2:c.1567G>C	NP_001182727.1:p.Val523Leu
NM_001195799.2:c.1444G>C	NP_001182728.1:p.Val482Leu
NM_001195800.2:c.1063G>C	NP_001182729.1:p.Val355Leu
NM_001195803.2:c.1186G>C	NP_001182732.1:p.Val396Leu